Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31577157C>A , CM000668.2:g.31577157C>A | GRCh38 |
| NC_000006.11:g.31544934C>A , CM000668.1:g.31544934C>A | GRCh37 |
| NC_000006.10:g.31652913C>A | NCBI36 |
| NG_007462.1:g.6585C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699334.1:c.276C>A | ENSP00000514308.1:n.276C>A | |
| ENST00000449264.3:c.322C>A MANE Select | ENSP00000398698.2:p.Arg108= | |
| ENST00000449264.2:c.322C>A | ENSP00000398698.2:p.Arg108= | |
| NM_000594.3:c.322C>A | NP_000585.2:p.Arg108= | |
| NM_000594.4:c.322C>A MANE Select | NP_000585.2:p.Arg108= |